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Aliases for PAXX Gene

Aliases for PAXX Gene

  • PAXX, Non-Homologous End Joining Factor 2 3 5
  • Paralog Of XRCC4 And XLF 2 3 4
  • XRCC4-Like Small Protein 2 3 4
  • C9orf142 3 4
  • XLS 3 4
  • Chromosome 9 Open Reading Frame 142 2
  • Protein PAXX 3

External Ids for PAXX Gene

Previous HGNC Symbols for PAXX Gene

  • C9orf142

Summaries for PAXX Gene

Entrez Gene Summary for PAXX Gene

  • The protein encoded by this gene plays a role in the nonhomologous end joining (NHEJ) pathway of DNA double-strand break repair. The encoded protein may function to stabilize the Ku70/Ku80 heterodimer to facilitate the assembly and maintain the stability of the NHEJ complex. [provided by RefSeq, Jul 2016]

GeneCards Summary for PAXX Gene

PAXX (PAXX, Non-Homologous End Joining Factor) is a Protein Coding gene. Diseases associated with PAXX include Achromatopsia.

UniProtKB/Swiss-Prot for PAXX Gene

  • Involved in non-homologous end joining (NHEJ), a major pathway to repair double-strand breaks in DNA. May act as a scaffold required to stabilize the Ku heterodimer, composed of XRCC5/Ku80 and XRCC6/Ku70, at double-strand break sites and promote the assembly and/or stability of the NHEJ machinery.

Additional gene information for PAXX Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAXX Gene

Genomics for PAXX Gene

Regulatory Elements for PAXX Gene

Enhancers for PAXX Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H136900 1.4 Ensembl ENCODE dbSUPER 6.6 -90.2 -90244 3 ELF3 HDGF PKNOX1 FOXA2 TBL1XR1 SIN3A RAD21 YY1 ZNF207 RUNX3 TRAF2 TMEM141 PHPT1 MAN1B1 ANAPC2 LCN12 PAXX SAPCD2 MIR4479 PIR43412
GH09H136898 0.8 ENCODE dbSUPER 7.4 -93.3 -93302 1 CTCF ZNF687 BACH1 ZNF600 MLLT1 NR3C1 RUNX3 TMEM141 PAXX LCNL1 MIR4479 PIR43412
GH09H136700 1.7 FANTOM5 Ensembl ENCODE dbSUPER 2.8 -291.3 -291314 1 PKNOX1 ATF1 TBL1XR1 RB1 ZNF121 ZNF143 ZNF207 ATF7 RUNX3 IKZF2 ANAPC2 MAN1B1 CCDC183 RABL6 ABCA2 PAXX LCNL1 SEC16A FUT7 AGPAT2
GH09H136990 1.7 FANTOM5 Ensembl ENCODE 2.3 +3.6 3598 10 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 LCN12 EHMT1 SEC16A ABCA2 SDCCAG3 ANAPC2 PRR31 C9orf139 MAN1B1 SNHG7
GH09H136895 0.5 dbSUPER 7.4 -95.7 -95696 2 GLIS2 GLIS1 MNT FUT7 ABCA2 NPDC1 ENTPD2 TMEM141 PAXX PHPT1 MIR4479 PIR43412
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PAXX on UCSC Golden Path with GeneCards custom track

Promoters for PAXX Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000243115 -118 1001 HDGF PKNOX1 ARNT ZFP64 SIN3A DMAP1 ZNF2 ZNF766 ZNF207 FOS

Genomic Location for PAXX Gene

Chromosome:
9
Start:
136,992,418 bp from pter
End:
136,993,984 bp from pter
Size:
1,567 bases
Orientation:
Plus strand

Genomic View for PAXX Gene

Genes around PAXX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAXX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAXX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAXX Gene

Proteins for PAXX Gene

  • Protein details for PAXX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUH6-PAXX_HUMAN
    Recommended name:
    Protein PAXX
    Protein Accession:
    Q9BUH6
    Secondary Accessions:
    • Q8IY19

    Protein attributes for PAXX Gene

    Size:
    204 amino acids
    Molecular mass:
    21640 Da
    Quaternary structure:
    • Homodimer. Interacts with the DNA-bound XRCC5/Ku80 and XRCC6/Ku70 heterodimer (Ku complex); the interaction is direct. Associates with the non-homologous end joining (NHEJ) complex which is at least composed of the core proteins XRCC5/Ku80, XRCC6/Ku70, PRKDC/DNA-PKcs, LIG4 and XRCC4. Additional components of the NHEJ complex include NHEJ1/XLF and C9orf142/PAXX.

    Three dimensional structures from OCA and Proteopedia for PAXX Gene

    Alternative splice isoforms for PAXX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAXX Gene

Post-translational modifications for PAXX Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PAXX Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PAXX Gene

Domains & Families for PAXX Gene

Gene Families for PAXX Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PAXX Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9BUH6

UniProtKB/Swiss-Prot:

PAXX_HUMAN :
  • The N-terminus (residues 1-113) forms a head domain that is structurally related to those of XRCC4, XLF/NHEJ1, and SASS6.
Domain:
  • The N-terminus (residues 1-113) forms a head domain that is structurally related to those of XRCC4, XLF/NHEJ1, and SASS6.
genes like me logo Genes that share domains with PAXX: view

No data available for Suggested Antigen Peptide Sequences for PAXX Gene

Function for PAXX Gene

Molecular function for PAXX Gene

UniProtKB/Swiss-Prot Function:
Involved in non-homologous end joining (NHEJ), a major pathway to repair double-strand breaks in DNA. May act as a scaffold required to stabilize the Ku heterodimer, composed of XRCC5/Ku80 and XRCC6/Ku70, at double-strand break sites and promote the assembly and/or stability of the NHEJ machinery.

Gene Ontology (GO) - Molecular Function for PAXX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25574025
GO:0032947 protein complex scaffold IDA 25670504
GO:0042803 protein homodimerization activity IDA 25574025
genes like me logo Genes that share ontologies with PAXX: view
genes like me logo Genes that share phenotypes with PAXX: view

Animal Model Products

CRISPR Products

miRNA for PAXX Gene

miRTarBase miRNAs that target PAXX

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PAXX
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PAXX Gene

Localization for PAXX Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAXX Gene

Nucleus. Note=Predominantly localizes to the nucleus. Accumulates at sites of DNA damage generated by laser microirradiation. {ECO:0000269 PubMed:25574025, ECO:0000269 PubMed:25670504}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PAXX gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PAXX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 25574025
GO:0035861 site of double-strand break IDA 25670504
GO:0043564 colocalizes_with Ku70:Ku80 complex IDA 25670504
GO:0070062 extracellular exosome IDA 23376485
GO:0070419 nonhomologous end joining complex IDA 25670504
genes like me logo Genes that share ontologies with PAXX: view

Pathways & Interactions for PAXX Gene

No Data Available

Gene Ontology (GO) - Biological Process for PAXX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006303 double-strand break repair via nonhomologous end joining IMP 25574025
GO:0006974 cellular response to DNA damage stimulus IDA,IEA 25574025
GO:0051103 DNA ligation involved in DNA repair IMP 25574025
genes like me logo Genes that share ontologies with PAXX: view

No data available for Pathways by source and SIGNOR curated interactions for PAXX Gene

Drugs & Compounds for PAXX Gene

No Compound Related Data Available

Transcripts for PAXX Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PAXX
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PAXX Gene

No ASD Table

Relevant External Links for PAXX Gene

GeneLoc Exon Structure for
PAXX
ECgene alternative splicing isoforms for
PAXX

Expression for PAXX Gene

NURSA nuclear receptor signaling pathways regulating expression of PAXX Gene:

PAXX

Evidence on tissue expression from TISSUES for PAXX Gene

  • Nervous system(4.3)
  • Liver(4.2)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PAXX Gene

Orthologs for PAXX Gene

This gene was present in the common ancestor of chordates.

Orthologs for PAXX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C9H9orf142 33
  • 99.39 (n)
C9ORF142 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C9H9orf142 33
  • 85.67 (n)
C9orf142 34
  • 79 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C11H9ORF142 34
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1306215 33
  • 82.72 (n)
mouse
(Mus musculus)
Mammalia BC029214 34 33
  • 79.33 (n)
OneToOne
Paxx 16
oppossum
(Monodelphis domestica)
Mammalia C9orf142 34
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C9orf142 34
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C9orf142 34
  • 34 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C5H9orf142 34
  • 30 (a)
OneToOne
Species where no ortholog for PAXX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PAXX Gene

ENSEMBL:
Gene Tree for PAXX (if available)
TreeFam:
Gene Tree for PAXX (if available)

Paralogs for PAXX Gene

No data available for Paralogs for PAXX Gene

Variants for PAXX Gene

Sequence variations from dbSNP and Humsavar for PAXX Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000031872 -- 136,994,144(+) AGACC(A/G)TCCAG downstream-variant-500B
rs1000721121 -- 136,990,511(+) GTGAT(A/G)GACAA upstream-variant-2KB
rs1000786005 -- 136,991,966(+) CTGGA(C/T)TCGGC upstream-variant-2KB
rs1001604266 -- 136,991,162(+) GAAGC(-/AGG)AGGAG upstream-variant-2KB
rs1001676081 -- 136,992,491(+) CCCGA(C/G)CCGCC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PAXX Gene

Variant ID Type Subtype PubMed ID
dgv13007n54 CNV loss 21841781
esv2422220 CNV deletion 17116639
nsv469918 CNV loss 18288195
nsv524322 CNV loss 19592680
nsv615991 CNV loss 21841781
nsv818738 CNV gain 17921354
nsv951206 CNV deletion 24416366

Variation tolerance for PAXX Gene

Residual Variation Intolerance Score: 40.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PAXX Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAXX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAXX Gene

Disorders for PAXX Gene

MalaCards: The human disease database

(1) MalaCards diseases for PAXX Gene - From: DISEASES

Disorder Aliases PubMed IDs
achromatopsia
  • achm
- elite association - COSMIC cancer census association via MalaCards
Search PAXX in MalaCards View complete list of genes associated with diseases

Relevant External Links for PAXX

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAXX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAXX
genes like me logo Genes that share disorders with PAXX: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PAXX Gene

Publications for PAXX Gene

  1. XLS (c9orf142) is a new component of mammalian DNA double-stranded break repair. (PMID: 25941166) Craxton A … Malewicz M (Cell death and differentiation 2015) 2 3 4 60
  2. DNA repair. PAXX, a paralog of XRCC4 and XLF, interacts with Ku to promote DNA double-strand break repair. (PMID: 25574025) Ochi T … Jackson SP (Science (New York, N.Y.) 2015) 2 3 4 60
  3. Interactome analysis identifies a new paralogue of XRCC4 in non-homologous end joining DNA repair pathway. (PMID: 25670504) Xing M … Xu D (Nature communications 2015) 3 4 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 60

Products for PAXX Gene

Sources for PAXX Gene

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